ABCMdb

PMID: 12202497

Fukui T, Yamamoto S, Nakano K, Tsujikawa M, Morimura H, Nishida K, Ohguro N, Fujikado T, Irifune M, Kuniyoshi K, Okada AA, Hirakata A, Miyake Y, Tano Y
ABCA4 gene mutations in Japanese patients with Stargardt disease and retinitis pigmentosa.
Invest Ophthalmol Vis Sci. 2002 Sep;43(9):2819-24., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCA4 p.Ile604Ser ABCA4 p.Leu1583Pro ABCA4 p.Glu1122Asp Screening of 96 normal control subjects for 17 sequence variations, cosegregation analyses of two STGD-affected families and two arRP-affected families, and screening of 96 Japanese patients with arRP for three segregated, presumably null mutations observed in Japanese patients with STGD were performed by restriction digestion, primer extension analysis, and direct sequencing.21 Because the IVS7-45_952delinsTCTGACC mutation causes a 139-bp deletion, the PCR products were analyzed by electrophoresis on a 2% agarose gel. The IVS12ϩ2T3G mutation creates a FokI (TaKaRa, Tokyo, Japan) recognition site (5Ј-GGATG(N)9-3Ј); the Ile604Ser mutation a PvuII (TaKaRa) recognition site (5Ј-CAGCTG-3Ј); the 1894delA mutation a XhoII (TaKaRa) recognition site (5Ј-RGATCY-3Ј); the Glu1122Asp mutation a Hin1I (TaKaRa) recognition site (5Ј-GRCGYC-3Ј); and the Leu1583Pro mutation an EcoRII (TaKaRa) recognition site (5Ј-CCWGG-3Ј). Login to comment 39 ABCA4 p.Ile604Ser ABCA4 p.Leu1583Pro ABCA4 p.Glu1122Asp ABCA4 p.Phe2188Ser ABCA4 p.Met1882Val ABCA4 p.Gly1623Ser The IVS7-45_952delinsTCTGACC, IVS12ϩ2T3G, IVS12-50G3A, Ile604Ser, 1894delA, Glu1122Asp, Leu1583Pro, Gly1623Ser, IVS38-36delT, Met1882Val, Arg2149stop, and Phe2188Ser sequence variations were not found in the 192 normal control alleles. Login to comment 46 ABCA4 p.Ile604Ser ABCA4 p.Ile604Ser ABCA4 p.Leu1583Pro ABCA4 p.Leu1583Pro ABCA4 p.Glu1122Asp ABCA4 p.Glu1122Asp ABCA4 p.Phe2188Ser ABCA4 p.Phe2188Ser ABCA4 p.Met1882Val ABCA4 p.Met1882Val ABCA4 p.Gly1623Ser ABCA4 p.Gly1623Ser ABCA4 Gene Sequence Variations Nucleotide change Effect STGD (20†) Control (192†) Reference IVS7-45_952delinsTCTGACC* Splice 0 0 This study IVS12ϩ2T3G* Splice 5 0 This study IVS12-50G3A Unkown 1 0 23 T1811G Ile604Ser 1 0 This study 1894delA Frameshift 1 0 This study G3366C Glu1122Asp 1 0 This study T4748C Leu1583Pro 1 0 This study G4867A Gly1623Ser 1 0 This study IVS38-36delT Unkown 1 0 This study A5644G Met1882Val 2 0 This study G5682C Leu1894Leu 4 32 12,13,14,16,22,23 A5814G Leu1938Leu 4 32 12,14,23 IVS41-11G3A Unkown 4 32 11,14,16,23 A5844G Pro1948Pro 4 32 11,12,14,16,22,23,24,27 T6285C Asp2095Asp 3 27 11,12,14,16,23 C6445T Arg2149Stop 1 0 15 T6563C Phe2188Ser 1 0 This study * Mutations observed in patients with arRP. Login to comment 59 ABCA4 p.Ile604Ser ABCA4 p.Leu1583Pro ABCA4 p.Glu1122Asp ABCA4 p.Phe2188Ser ABCA4 p.Met1882Val ABCA4 p.Gly1623Ser The IVS7-45_952delinsTCTGACC, IVS12af9;2T3G, Ile604Ser, 1894delA Glu1122Asp, Leu1583Pro, Gly1623Ser, Met1882Val, Arg2149stop, and Phe2188Ser sequence variations were not found in the 192 normal control alleles tested, and hence these FIGURE 2. Login to comment 61 ABCA4 p.Ile604Ser ABCA4 p.Leu1583Pro ABCA4 p.Glu1122Asp ABCA4 p.Phe2188Ser ABCA4 p.Met1882Val ABCA4 p.Gly1623Ser The IVS7-45_952delinsTCTGACC, IVS12ϩ2T3G, Ile604Ser, 1894delA Glu1122Asp, Leu1583Pro, Gly1623Ser, Met1882Val, Arg2149stop, and Phe2188Ser sequence variations were not found in the 192 normal control alleles tested, and hence these FIGURE 2. Login to comment